Variant report

Variant	rs62206457
Chromosome Location	chr20:52301959-52301960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:45947657..45949447-chr20:52300558..52302444,2	MCF-7	breast:
2	chr20:52301128..52304461-chr20:52354219..52358396,5	K562	blood:
3	chr20:52296882..52298732-chr20:52301296..52303888,2	K562	blood:
4	chr17:57923186..57924768-chr20:52300260..52302785,2	MCF-7	breast:
5	chr17:56707927..56710808-chr20:52300951..52304880,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	Chromatin interaction
ENSG00000101040	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34537877	0.82[AMR][1000 genomes]
rs35241466	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56269299	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62206455	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055342	chr20:52126973-52352323	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	214 gene(s)	inside rSNPs	diseases
2	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
3	nsv834006	chr20:52182498-52309366	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	193 gene(s)	inside rSNPs	diseases
4	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
5	nsv912935	chr20:52221906-52337118	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	101 gene(s)	inside rSNPs	diseases
6	nsv912936	chr20:52250876-52344962	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
7	nsv912937	chr20:52251863-52344962	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
8	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
9	nsv518277	chr20:52276452-52315311	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv912938	chr20:52276452-52328338	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv437185	chr20:52300359-52330053	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52295400-52302200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr20:52296800-52302200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr20:52297600-52302200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr20:52297600-52305400	Weak transcription	A549	lung
5	chr20:52298800-52305400	Weak transcription	HepG2	liver
6	chr20:52299000-52302400	Weak transcription	Primary B cells from cord blood	blood
7	chr20:52299200-52302400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr20:52299600-52302400	Weak transcription	Placenta	Placenta
9	chr20:52301400-52302800	Enhancers	K562	blood
10	chr20:52301400-52303400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr20:52301400-52303400	Enhancers	Fetal Thymus	thymus
12	chr20:52301600-52302800	Enhancers	Thymus	Thymus
13	chr20:52301600-52303000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr20:52301600-52303000	Enhancers	GM12878-XiMat	blood
15	chr20:52301600-52303400	Enhancers	Dnd41	blood
16	chr20:52301800-52303000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr20:52301800-52303000	Enhancers	Primary T cells from cord blood	blood
18	chr20:52301800-52303000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr20:52301800-52303000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr20:52301800-52303000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr20:52301800-52303000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr20:52301800-52303000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr20:52301800-52303400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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